ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1715-9T>A

dbSNP: rs1057520813
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418375 SCV000518149 likely benign not specified 2015-07-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002524868 SCV003246361 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-06-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528168 SCV004357459 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-09 criteria provided, single submitter clinical testing This variant causes a T to A nucleotide substitution at the -9 position of intron 14 of the FBN1 gene. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV003996038 SCV004823472 uncertain significance Marfan syndrome 2023-07-10 criteria provided, single submitter clinical testing This variant causes a T to A nucleotide substitution at the -9 position of intron 14 of the FBN1 gene. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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